Glycogen storage disease type I causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
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==Overview== | ==Overview== | ||
Glycogen storage disease type 1 is an [[autosomal recessive]] disorder. Glycogen storage disease type 1a is caused by the deficiency of the [[glucose-6-phosphatase]] enzyme.[[G6PC]] [[gene mutation]] responsible for the glucose-6-phosphatase enzyme deficiency is located on [[chromosome]] 17q21. Glycogen storage disease type 1b is caused by a defect in the [[microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]. [[SLC37A4]] [[gene mutation]] responsible for the [[microsomal]] [[glucose-6-phosphate]] transporter is located on [[chromosome]] 11q23. | |||
==Causes== | ==Causes== | ||
*Glycogen storage disease type 1 is an [[autosomal recessive]] disorder.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403 }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue= | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942 }} </ref> | |||
*Glycogen storage disease type 1a is caused by the deficiency of the [[glucose-6-phosphatase]] enzyme. [[G6PC]] [[gene mutation]] responsible for the glucose-6-phosphatase enzyme deficiency is located on [[chromosome]] 17q21. | |||
*Glycogen storage disease type 1b is caused by a defect in the [[microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]. [[SLC37A4]] [[gene mutation]] responsible for the [[microsomal]] [[glucose-6-phosphate]] transporter is located on [[chromosome]] 11q23. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category: | [[Category:Pediatrics]] | ||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 16:49, 4 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Glycogen storage disease type 1 is an autosomal recessive disorder. Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme.G6PC gene mutation responsible for the glucose-6-phosphatase enzyme deficiency is located on chromosome 17q21. Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. SLC37A4 gene mutation responsible for the microsomal glucose-6-phosphate transporter is located on chromosome 11q23.
Causes
- Glycogen storage disease type 1 is an autosomal recessive disorder.[1][2][3]
- Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. G6PC gene mutation responsible for the glucose-6-phosphatase enzyme deficiency is located on chromosome 17q21.
- Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. SLC37A4 gene mutation responsible for the microsomal glucose-6-phosphate transporter is located on chromosome 11q23.
References
- ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.